Linked Data
ClinVar Variation Id:
2980201
ClinVar RCV Id:
RCV003837375
dbSNP Id:
rs776546689
ExAC:
3:133475739 G / A
gnomAD v2:
3-133475739-G-A
gnomAD v3:
3-133756895-G-A
gnomAD v4:
3-133756895-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133756895G>A , CM000665.2:g.133756895G>A | GRCh38 |
| NC_000003.11:g.133475739G>A , CM000665.1:g.133475739G>A | GRCh37 |
| NC_000003.10:g.134958429G>A | NCBI36 |
| NG_013080.1:g.15763G>A | |
| NG_013080.2:g.99898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.756G>A MANE Select | ENSP00000385834.3:p.Lys252= | |
| ENST00000402696.7:c.756G>A | ENSP00000385834.3:p.Lys252= | |
| ENST00000482271.5:c.375G>A | ENSP00000419338.1:p.Lys125= | |
| ENST00000485977.1:c.158-37G>A | ENSP00000418716.1:n.158-37G>A | |
| NM_001063.3:c.756G>A | NP_001054.1:p.Lys252= | |
| XM_011513100.1:c.756G>A | XP_011511402.1:p.Lys252= | |
| NM_001354703.1:c.624G>A | NP_001341632.1:p.Lys208= | |
| NM_001354704.1:c.375G>A | NP_001341633.1:p.Lys125= | |
| NM_001063.4:c.756G>A MANE Select | NP_001054.2:p.Lys252= | |
| NM_001354703.2:c.624G>A | NP_001341632.2:p.Lys208= | |
| NM_001354704.2:c.375G>A | NP_001341633.2:p.Lys125= |